PDGFR HES Test: Comprehensive Genetic Analysis for Hypereosinophilic Syndrome
Understanding PDGFR HES Testing
The PDGFR HES (Platelet-Derived Growth Factor Receptor Hypereosinophilic Syndrome) test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for hypereosinophilic syndrome. This specialized genetic analysis utilizes Fluorescence In Situ Hybridization (FISH) technology to detect specific chromosomal abnormalities in the PDGFRα gene, which plays a critical role in regulating eosinophil production and function.
Hypereosinophilic syndrome is a rare hematological condition characterized by persistently elevated eosinophil counts in the blood and tissue infiltration, leading to organ damage. The PDGFR HES test provides clinicians with precise genetic information essential for accurate diagnosis, prognosis determination, and targeted treatment selection.
What the PDGFR HES Test Measures
This advanced genetic test specifically targets and analyzes:
- PDGFRα gene mutations and rearrangements
- Chromosomal abnormalities involving the 4q12 region
- FIP1L1-PDGFRA fusion gene formation
- Genetic markers associated with eosinophil dysregulation
The test employs sophisticated FISH methodology to visualize genetic material at the chromosomal level, providing high-resolution detection of specific mutations that drive abnormal eosinophil proliferation. This level of precision enables healthcare providers to distinguish between different subtypes of hypereosinophilic syndrome and guide appropriate therapeutic interventions.
Who Should Consider PDGFR HES Testing
Clinical Indications and Symptoms
Patients experiencing the following symptoms or clinical presentations should discuss PDGFR HES testing with their healthcare provider:
- Unexplained persistent eosinophilia (eosinophil count >1500/μL)
- Chronic fatigue and unexplained weight loss
- Recurrent skin rashes, itching, or angioedema
- Respiratory symptoms including cough, wheezing, or shortness of breath
- Cardiac abnormalities or heart failure symptoms
- Neurological symptoms such as peripheral neuropathy
- Gastrointestinal disturbances including diarrhea or abdominal pain
- Patients with suspected clonal eosinophilia
Patient Populations
- Individuals with treatment-resistant eosinophilic conditions
- Patients requiring differential diagnosis of eosinophilia
- Those being evaluated for targeted therapy eligibility
- Individuals with family history of hematological disorders
Benefits of PDGFR HES Testing
Undergoing PDGFR HES testing offers numerous clinical advantages:
Accurate Diagnosis
The test provides definitive genetic evidence for hypereosinophilic syndrome subtype classification, enabling precise diagnosis and eliminating diagnostic uncertainty.
Targeted Treatment Selection
Detection of specific PDGFRα mutations guides the selection of tyrosine kinase inhibitors, particularly imatinib, which has shown remarkable efficacy in PDGFRA-positive HES patients.
Prognostic Information
Genetic findings help predict disease course and potential treatment response, allowing for personalized management strategies.
Treatment Monitoring
The test serves as a baseline for monitoring treatment effectiveness and detecting emerging resistance mutations.
Understanding Your Test Results
Interpretation Guidelines
Your PDGFR HES test results will fall into one of several categories:
Positive Result
A positive result indicates the presence of PDGFRα gene mutations or rearrangements, confirming the diagnosis of PDGFRA-associated hypereosinophilic syndrome. This finding typically predicts excellent response to targeted tyrosine kinase inhibitor therapy.
Negative Result
A negative result suggests the absence of detectable PDGFRα mutations. This may indicate other forms of hypereosinophilic syndrome or eosinophilic conditions requiring different diagnostic approaches and treatment strategies.
Inconclusive Result
In rare cases, results may be inconclusive due to technical factors or sample quality. Repeat testing may be recommended in such instances.
Clinical Implications
- Positive results often lead to immediate initiation of targeted therapy
- Negative results prompt further investigation into alternative eosinophilia causes
- All results should be interpreted in clinical context by a qualified hematologist
- Genetic counseling may be recommended for positive cases
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PDGFR HES Test |
| Discount Price | $132 USD |
| Regular Price | $176 USD |
| Turnaround Time | 3-4 Days |
| Sample Type | Bone Marrow / Peripheral Blood |
| Test Components | Sodium Heparin Vacutainer (2ml) |
| Methodology | FISH (Fluorescence In Situ Hybridization) |
Pre-Test Instructions and Requirements
The PDGFR HES test requires a physician’s prescription for most cases. Prescription requirements do not apply to surgical cases, pregnancy-related testing, or individuals planning international travel. Please consult with your healthcare provider to determine if this test is appropriate for your specific clinical situation.
Nationwide Testing Availability
We proudly offer PDGFR HES testing services across the United States with convenient locations in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas locations
- Miami and Florida centers
- Seattle and Pacific Northwest facilities
- Boston and New England locations
- Atlanta and Southeastern centers
Our state-of-the-art laboratories ensure consistent, high-quality testing standards regardless of collection location, with rapid 3-4 day turnaround times maintained nationwide.
Take Action Today
Don’t let unexplained symptoms persist without answers. The PDGFR HES test provides crucial genetic insights that can transform your diagnostic journey and treatment outcomes. Our experienced genetic counselors and hematology specialists are ready to assist you throughout the testing process.
Ready to schedule your PDGFR HES test? Contact our dedicated patient services team today to book your appointment or discuss testing options with our genetic specialists.
Call or WhatsApp: +1(267) 388-9828
Take the first step toward precise diagnosis and personalized treatment by scheduling your PDGFR HES genetic analysis today. Our team is committed to providing exceptional care and accurate results to guide your healthcare journey.
